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The targeting vector contains a loxP-flanked neomycin inserted into intron 8 and the PEEXI amino acid substitutions L558E (lysine to glutamate, CTG to GAG) and V559E (valine to glutamate, GTA to GAA) inserted into exon 8. Cre-mediated recombination removed the neomycing cassette. The mutation corresponds to the human BARD1-PEELI mutation. (J:94077)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
